Perrault syndrome 5

Definition

Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.

Also known as Perrault syndrome 5, Perrault syndrome caused by mutation in TWNK, Perrault syndrome type 5, TWNK Perrault syndrome — per MONDO

Also identified as

• OMIM 616138 per MONDO
• UMLS C4015307 per MONDO